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content:alpha-feto_protein_serum [2020/02/16 20:38] – icna | content:alpha-feto_protein_serum [2022/04/30 11:54] (current) – changed pubmed syntax administrator@icnapedia.org | ||
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====== Alpha-Feto protein, serum ====== | ====== Alpha-Feto protein, serum ====== | ||
- | <alert type=" | ||
{{tag> | {{tag> | ||
==== Indications ==== | ==== Indications ==== | ||
- | * [[ataxic ' | + | * any type of movement disorder in early childhood, cerebellar ataxias, [[oculomotor apraxia]](saccadic impairment) |
==== Notes ==== | ==== Notes ==== | ||
- | Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l Postnatally AFP gene expression is turned down with a subsequent fall of the serum concentrations to 'adult values' | + | Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l. Postnatally |
- | Increased serum AFP is a biomarker for [[Ataxia Telangiectasia]], | + | Increased serum AFP is a biomarker for [[Ataxia Telangiectasia]], |
- | * Ataxia Telangiectasia | + | * **Classic |
* Infancy/ | * Infancy/ | ||
- | * ↑ AFP levels 100–900 | + | * ↑ AFP levels 100–900 |
+ | * in Variant A-T (ATM) AFP levels are 50–500 μg/l | ||
* other laboratory markers include immunoglobulins, | * other laboratory markers include immunoglobulins, | ||
* **Ataxia with Oculomotor Apraxia Type 1 (AOA1)** | * **Ataxia with Oculomotor Apraxia Type 1 (AOA1)** | ||
* AOA1 (APTX) | * AOA1 (APTX) | ||
- | * ↑ AFP seen only in exceptional cases[(: | + | *AFP 10-20 μg/ |
* AOA2 (SETX) | * AOA2 (SETX) | ||
* Adolescence/ | * Adolescence/ | ||
- | * AFP 10–100 | + | * AFP 10–100 |
* ↑ Serum Creatine kinase | * ↑ Serum Creatine kinase | ||
* AOA2 (PIK3R5) | * AOA2 (PIK3R5) | ||
* Adolescence/ | * Adolescence/ | ||
- | * AFP 30–100 | + | * AFP 30–100 |
* ↑ Serum Creatine kinase | * ↑ Serum Creatine kinase | ||
* AOA2 (none-SETX/ | * AOA2 (none-SETX/ | ||
* Adolescence/ | * Adolescence/ | ||
* ↑ Serum Creatine kinase | * ↑ Serum Creatine kinase | ||
- | * **Mitochondrial disorders (POLG and C10orf2)** | + | * **Mitochondrial disorders ([[https:// |
* infancy/ | * infancy/ | ||
* raised serum/csf lactate | * raised serum/csf lactate | ||
- | ==== References ==== | + | CSF AFP levels in normal infants also decline with gestational age in proportion to levels of AFP in serum[(: |
- | ~~REFNOTES~~ | + | * median 61 kIU/L (5th-95th centile: 2-889 kIU/L) in infants -69 to 31 days old |
+ | * median 1.2 kIU/L (5th-95th centile: 0.1-12.5 kIU/L) in infants 32 to 110 days old |